HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KCNE3
potassium voltage-gated channel subfamily E regulatory subunit 3
Chromosome 11 · 11q13.4
NCBI Gene: 10008Ensembl: ENSG00000175538.12HGNC: HGNC:6243UniProt: Q6IAE6
49PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingplasma membraneregulation of heart rate by cardiac conductionpotassium channel regulator activityBrugada syndromeAbnormality of the cardiovascular systemProlonged QT intervalOsteopetrosis with renal tubular acidosis
✦AI Summary

KCNE3 is a single transmembrane regulatory subunit that modulates voltage-gated potassium (Kv) channel function through direct association with pore-forming α subunits 1. Structurally, KCNE3 contains a transmembrane domain (residues 57-82) with an extracellular N-terminus and intracellular C-terminus 2. Its primary mechanism involves altering channel gating kinetics and enhancing complex stability; notably, KCNE3 suppresses KCNQ1 channel closure at negative membrane voltages by locking the voltage sensor in a depolarized conformation, while PIP2 signaling triggers pore dilation 3. KCNE3 associates with KCNQ1 to form constitutively active intestinal cAMP-stimulated potassium channels involved in chloride secretion 1, and with KCNC4 to establish resting membrane potential in skeletal muscle 1. Functionally, KCNE3 exhibits opposite regulatory effects compared to KCNE1 on KCNQ1 channels 1. Disease relevance includes Brugada syndrome 6 associated with KCNE3 mutations 1, though meta-analysis found no significant association between KCNE3 variants and Ménière's disease risk 4. KCNE3 is expressed in gastrointestinal tissues and embryonic capillary endothelium 5, with emerging evidence for cardiac effects through regulation of Kv4 channels 6.

Sources cited
1
KCNE3 suppresses KCNQ1 channel closure at negative voltages by locking the voltage sensor in depolarized conformation; PIP2 triggers pore dilation
PMID: 31883792
2
KCNE3 regulates Kv channels through gating modulation; forms constitutively active KCNQ1-KCNE3 channels in intestine; establishes skeletal muscle resting membrane potential with KCNC4; exhibits opposite effects to KCNE1; variants cause cardiac arrhythmias
PMID: 26410412
3
KCNE3 transmembrane domain spans residues 57-82; N-terminus is solvent-exposed; modulates voltage-gated potassium channel activity
PMID: 40981745
4
Meta-analysis of KCNE3 rs2270676 variant found no significant association with Ménière's disease risk
PMID: 26890422
5
KCNE3 identified as capillary endothelial cell marker gene in embryonic vasculature
PMID: 38348657
6
KCNE3 long isoform (KCNE3L) inhibits cardiac Kv4.2 and Kv4.3 channels with subunit-specific effects on inactivation kinetics
PMID: 27922120
Disease Associationsⓘ21
Brugada syndromeOpen Targets
0.28Weak
Abnormality of the cardiovascular systemOpen Targets
0.19Weak
Prolonged QT intervalOpen Targets
0.17Weak
Osteopetrosis with renal tubular acidosisOpen Targets
0.12Weak
SyncopeOpen Targets
0.12Weak
ventricular fibrillationOpen Targets
0.12Weak
Romano-Ward syndromeOpen Targets
0.07Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.06Suggestive
ulcerative colitisOpen Targets
0.06Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.06Suggestive
hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
Familial short QT syndromeOpen Targets
0.05Suggestive
glucocorticoid-remediable aldosteronismOpen Targets
0.05Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.05Suggestive
benign neoplasmOpen Targets
0.05Suggestive
familial atrial fibrillationOpen Targets
0.05Suggestive
Barrett's esophagusOpen Targets
0.05Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
Brugada syndrome 6UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CALM2Protein interaction100%KCNJ13Protein interaction100%KCNN4Protein interaction100%KCNQ2Protein interaction100%SCN5AProtein interaction100%KCNK5Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Lung
75%
Bone Marrow
64%
Brain
53%
Heart
31%
Liver
25%
Gene Interaction Network
Click a node to explore
KCNE3CALM2KCNJ13KCNN4KCNQ2SCN5AKCNK5
PROTEIN STRUCTURE
Preparing viewer…
PDB6V00 · 3.10 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.36LoF Tolerant
pLIⓘ
0.26Tolerant
Observed/Expected LoF0.44 [0.18–1.36]
RankingsWhere KCNE3 stands among ~20K protein-coding genes
  • #8,965of 20,598
    Most Researched49
  • #14,208of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedKCNE3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structural Basis of Human KCNQ1 Modulation and Gating.
PMID: 31883792
Cell · 2020
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
0.90
3
Variants in the KCNE1 or KCNE3 gene and risk of Ménière's disease: A meta-analysis.
PMID: 26890422
J Vestib Res · 2016
0.80
4
Molecular and Spatial Signatures of Mouse Embryonic Endothelial Cells at Single-Cell Resolution.
PMID: 38348657
Circ Res · 2024
0.70
5
KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.
PMID: 26410412
Gene · 2016
0.60